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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 4-164879002-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=164879002&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 164879002,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001297550.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APELA",
"gene_hgnc_id": 48925,
"hgvs_c": "c.159T>G",
"hgvs_p": "p.Phe53Leu",
"transcript": "NM_001297550.2",
"protein_id": "NP_001284479.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 54,
"cds_start": 159,
"cds_end": null,
"cds_length": 165,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 2432,
"mane_select": "ENST00000507152.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297550.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APELA",
"gene_hgnc_id": 48925,
"hgvs_c": "c.159T>G",
"hgvs_p": "p.Phe53Leu",
"transcript": "ENST00000507152.6",
"protein_id": "ENSP00000484618.1",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 54,
"cds_start": 159,
"cds_end": null,
"cds_length": 165,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 2432,
"mane_select": "NM_001297550.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507152.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APELA",
"gene_hgnc_id": 48925,
"hgvs_c": "c.159T>G",
"hgvs_p": "p.Phe53Leu",
"transcript": "ENST00000515275.1",
"protein_id": "ENSP00000480045.1",
"transcript_support_level": 3,
"aa_start": 53,
"aa_end": null,
"aa_length": 54,
"cds_start": 159,
"cds_end": null,
"cds_length": 165,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515275.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APELA",
"gene_hgnc_id": 48925,
"hgvs_c": "c.159T>G",
"hgvs_p": "p.Phe53Leu",
"transcript": "ENST00000914507.1",
"protein_id": "ENSP00000584566.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 54,
"cds_start": 159,
"cds_end": null,
"cds_length": 165,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914507.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APELA",
"gene_hgnc_id": 48925,
"hgvs_c": "c.159T>G",
"hgvs_p": "p.Phe53Leu",
"transcript": "ENST00000914508.1",
"protein_id": "ENSP00000584567.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 54,
"cds_start": 159,
"cds_end": null,
"cds_length": 165,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914508.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APELA",
"gene_hgnc_id": 48925,
"hgvs_c": "c.159T>G",
"hgvs_p": "p.Phe53Leu",
"transcript": "ENST00000914509.1",
"protein_id": "ENSP00000584568.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 54,
"cds_start": 159,
"cds_end": null,
"cds_length": 165,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914509.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APELA",
"gene_hgnc_id": 48925,
"hgvs_c": "c.159T>G",
"hgvs_p": "p.Phe53Leu",
"transcript": "ENST00000914510.1",
"protein_id": "ENSP00000584569.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 54,
"cds_start": 159,
"cds_end": null,
"cds_length": 165,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914510.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APELA",
"gene_hgnc_id": 48925,
"hgvs_c": "c.159T>G",
"hgvs_p": "p.Phe53Leu",
"transcript": "XM_017007623.2",
"protein_id": "XP_016863112.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 54,
"cds_start": 159,
"cds_end": null,
"cds_length": 165,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007623.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APELA",
"gene_hgnc_id": 48925,
"hgvs_c": "n.159T>G",
"hgvs_p": null,
"transcript": "ENST00000510062.5",
"protein_id": "ENSP00000478306.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 674,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000510062.5"
}
],
"gene_symbol": "APELA",
"gene_hgnc_id": 48925,
"dbsnp": "rs4541465",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24550291895866394,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.8945,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.953,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001297550.2",
"gene_symbol": "APELA",
"hgnc_id": 48925,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.159T>G",
"hgvs_p": "p.Phe53Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}